Zobrazeno 1 - 10
of 20
pro vyhledávání: '"Sonia Garcia-Ruiz"'
Leveraging omic features with F3UTER enables identification of unannotated 3’UTRs for synaptic genes
Autor:
Siddharth Sethi, David Zhang, Sebastian Guelfi, Zhongbo Chen, Sonia Garcia-Ruiz, Emmanuel O. Olagbaju, Mina Ryten, Harpreet Saini, Juan A. Botia
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-15 (2022)
3’ untranslated regions (3’UTRs) play a crucial role in regulating gene expression, but our 3’UTR catalogue is incomplete. Here, the authors develop a machine learning-based framework to predict previously unannotated 3’UTRs in 39 human tissu
Externí odkaz:
https://doaj.org/article/2e8bb68ea8ef420a96f72aab47116b2e
Autor:
Aine Fairbrother-Browne, Aminah T. Ali, Regina H. Reynolds, Sonia Garcia-Ruiz, David Zhang, Zhongbo Chen, Mina Ryten, Alan Hodgkinson
Publikováno v:
Communications Biology, Vol 4, Iss 1, Pp 1-14 (2021)
Fairbrother-Browne and collaborators analyze the relationship between nuclear and mitochondrial gene expression across the human brain and find correlation profiles that are governed by regional patterns. They show that these correlations are disrupt
Externí odkaz:
https://doaj.org/article/d5dd7c062e3448ff913f17a96a81fd0a
Publikováno v:
Bioinformatics. 38:3844-3846
MotivationThe advent of long-read sequencing technologies has increased demand for the visualisation and interpretation of transcripts. However, tools that perform such visualizations remain inflexible and lack the ability to easily identify differen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::458c14803ff679185f7d5dd2aa50eca7
https://doi.org/10.1093/bioinformatics/btac409
https://doi.org/10.1093/bioinformatics/btac409
Leveraging omic features with F3UTER enables identification of unannotated 3'UTRs for synaptic genes
Autor:
Siddharth Sethi, David Zhang, Sebastian Guelfi, Zhongbo Chen, Sonia Garcia-Ruiz, Emmanuel O. Olagbaju, Mina Ryten, Harpreet Saini, Juan A. Botia
Publikováno v:
Nature communications. 13(1)
There is growing evidence for the importance of 3’ untranslated region (3’UTR) dependent regulatory processes. However, our current human 3’UTR catalogue is incomplete. Here, we develop a machine learning-based framework, leveraging both genomi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0765849fb17b03548dc9d6dac9794d5c
https://pubmed.ncbi.nlm.nih.gov/35477703
https://pubmed.ncbi.nlm.nih.gov/35477703
Autor:
Shaul, Lerner, Raya, Eilam, Lital, Adler, Julien, Baruteau, Topaz, Kreiser, Michael, Tsoory, Alexander, Brandis, Tevie, Mehlman, Mina, Ryten, Juan A, Botia, Sonia Garcia, Ruiz, Alejandro Cisterna, Garcia, Carlo, Dionisi-Vici, Giusy, Ranucci, Marco, Spada, Ram, Mazkereth, Robert, McCarter, Rima, Izem, Thomas J, Balmat, Rachel, Richesson, Ehud, Gazit, Sandesh C S, Nagamani, Marc, Yudkoff
Publikováno v:
Human Genetics
Argininosuccinate lyase (ASL) is essential for the NO-dependent regulation of tyrosine hydroxylase (TH) and thus for catecholamine production. Using a conditional mouse model with loss of ASL in catecholamine neurons, we demonstrate that ASL is expre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b55b04fcb401eba776e6c8db6bbac0e0
https://pubmed.ncbi.nlm.nih.gov/34417872
https://pubmed.ncbi.nlm.nih.gov/34417872
Autor:
Zhongbo Chen, David Zhang, Regina Reynolds, Emil Gustavsson, Sonia Garcia Ruiz, John Hardy, Henry Houlden, Sarah Gagliano Taliun, Juan Botia, Mina Ryten
Publikováno v:
Journal of Neurology, Neurosurgery & Psychiatry. 93:A97.1-A97
While encephalisation has provided advantages to human evolution, it may have also predisposed us to neurological diseases as common neurodegenerative disorders such as Alzheimer’s and Parkinson’s disease do not occur naturally in aged non-human
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cd947f9955380a1741da3bb9adec567b
https://doi.org/10.1136/jnnp-2022-abn.313
https://doi.org/10.1136/jnnp-2022-abn.313
Autor:
Zhongbo Chen, Sonia Garcia Ruiz, Henry Houlden, David Zhang, Karishma D’Sa, Emil K. Gustavsson, Sarah A Gagliano Taliun, Juan A. Botía, Regina H. Reynolds, Aine Fairbrother-Browne, Mina Ryten, Jana Vandrovcova, John Hardy
Knowledge of genomic features specific to the human lineage may provide insights into brain-related diseases. We leverage high-depth whole genome sequencing data to generate a combined annotation identifying regions simultaneously depleted for geneti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::318c69b078646a6de09c41e4cf5c0436
https://doi.org/10.1101/2020.04.17.046441
https://doi.org/10.1101/2020.04.17.046441
Autor:
Niccolo E. Mencacci, Paola Forabosco, Juan A. Botía, John Hardy, Michael E. Weale, Kailash P. Bhatia, Regina H. Reynolds, Jana Vandrovcova, Mina Ryten, Sonia Garcia Ruiz
Dystonia is a neurological disorder characterized by sustained or intermittent muscle contractions causing abnormal movements and postures, often occurring in absence of any structural brain abnormality. Psychiatric comorbidities, including anxiety,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd2764e3639867485d2c4154aebc9969
https://doi.org/10.1101/2020.01.31.928978
https://doi.org/10.1101/2020.01.31.928978
Autor:
Regina H. Reynolds, Kerri J. Kinghorn, Lea R'Bibo, Alastair J. Noyce, Henry Houlden, Elena Zholdybayeva, Niccolo E. Mencacci, Patrick A. Lewis, Claudia Manzoni, Nazira Zharkinbekova, Daniah Trabzuni, Nicholas W. Wood, Sebastian Guelfi, John Hardy, Valentina Escott-Price, Rita Guerreiro, Ruth C. Lovering, Chris-Ann Mackenzie, Juan A. Botía, Álvaro Sánchez-Ferrer, John P. Quinn, Viola Volpato, Rauan Kaiyrzhanov, Peter Holmans, Caleb Webber, Huw R. Morris, Sonia Garcia Ruiz, Kirsten Harvey, Nigel Williams, Thomas Foltynie, Colin Smith, Viorica Chelban, Ben Middlehurst, Kin Y. Mok, Karishma D’Sa, Adaikalavan Ramasamy, Chingiz Shashakin, Kailash P. Bhatia, Helene Plun-Favreau, Jana Vandrovcova, Mina Ryten, Manuela Tan, Mie Rizig, Kimberley Billingsley, Demis A. Kia, Akbota Aitkulova, Paola Forabosco, Jose Bras, Michael E. Weale
Publikováno v:
Brain
Dystonia is a neurological disorder characterized by sustained or intermittent muscle contractions causing abnormal movements and postures, often occurring in absence of any structural brain abnormality. Psychiatric comorbidities, including anxiety,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f1f195fce190cf6e612a95ad39f1155c
https://pubmed.ncbi.nlm.nih.gov/33578419
https://pubmed.ncbi.nlm.nih.gov/33578419
Autor:
Cornelis Blauwendraat, John Hardy, Alessandro Crimi, Regina H. Reynolds, Mina Ryten, Dezirae Schneider, Sara Bandres-Ciga, Eleanna Kara, Daniel Heinzer, Alexandre Theocharides, Claudia Manzoni, Juan A. Botía, Marco Losa, Jordan D. Marks, Veronika Lysenko, Patrick A. Lewis, Merve Avar, Bradley T. Hyman, Sarah C. Hopp, Daniel Patrick Pease, Zhanyun Fan, Alessandra Carrella, Anne Wiedmer, Marc Emmenegger, Karishma D’Sa, Andra Chincisan, Andreia D. Magalhães, Lorene Mottier, Adriano Aguzzi, Manfredi Carta, Caroline Aemisegger, Sonia Garcia Ruiz
SummaryNeuropathological and experimental evidence suggests that the cell-to-cell transfer of a-synuclein has an important role in the pathogenesis of Parkinson’s disease (PD). However, the mechanism underlying this phenomenon is not fully understo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e4071e59018abf3fcdf39a305b58151
https://doi.org/10.1101/2019.12.23.886838
https://doi.org/10.1101/2019.12.23.886838